Results 101 to 110 of about 5,374 (184)

Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia

Case Reports, 2016
MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) and MIDD syndrome (maternally inherited diabetes and deafness) are mitochondrial diseases caused in most cases by the same mutation m.3243A> G, which affects the
Jorge Luis Granadillo De Luque, Manuel Luna, Leonardo Hernández-Reina, Clara Arteaga-Diaz, Juan Manuel Arteaga-Díaz   +4 more
doaj  

Comprehensive Diagnostic Criteria for MELAS Syndrome; a Case Study Involving an Elderly Patient With MT-TWm.5541C>T Mutation. [PDF]

Neurologist, 2023
Wu G, Shen Y, Zhu F, Tao W, Zhou Y, Ke S, Jiang H.   +6 more
europepmc   +1 more source

MELAS syndrome with rare manifestations misdiagnosed as vasculitis in the absence of lactic acidosis: A case report. [PDF]

Ann Med Surg (Lond), 2022
Alsultan M, Alshaar D, Alkhouli B, Hassan Q.   +3 more
europepmc   +1 more source

Monozygotic twins with MELAS-like syndrome lacking ragged red fibers and lactacidaemia [PDF]

, 1996
Typical cases of MELAS present a combination of clinical and neuroradiological features, lactacidaemia, and ragged red fibers (RRFs) in striated muscle. We have observed a MELAS-like syndrome in monozygotic twins.
Wibom, R., Åkerlund, P., Nennesmo, I., Lundberg, P. O.,, Raininko, Raili,, Melberg, Atle,, Khaled, A., Silander, H.C.,, Olsson, Y.,   +8 more
core  

Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome. [PDF]

J Neurol, 2022
Guerrero-Molina MP, Morales-Conejo M, Delmiro A, Morán M, Domínguez-González C, Arranz-Canales E, Ramos-González A, Arenas J, Martín MA, González de la Aleja J.   +9 more
europepmc   +1 more source

MELAS Syndrome [PDF]

, 2020
openaire   +1 more source

A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report. [PDF]

Iran J Public Health, 2022
Chu X, Dai J, Cui H, Shen H, Wu Q, Zhu X, Zhu B.   +6 more
europepmc   +1 more source

TIVA AND SUGAMMADEX IN A PATIENT WITH MELAS SYNDROME: A CASE REPORT [PDF]

, 2012
Aim. MELAS (mitochondrial myopathy, encephalopathy, lac- tic acidosis, and stroke-like episodes) syndrome is a maternal- ly inherited multisystem disease caused by mutations of the mitochondrial DNA.
C. Vitiello, FERRARO, Fausto, M. De Vizia, I. Di Domenico, J. Petruzzi   +4 more
core  

Psychiatric care for a person with MELAS syndrome: A case report. [PDF]

Clin Case Rep, 2021
Leong DY, Chee RY, Lui YS.
europepmc   +1 more source

A Mitochondrial Disorder in a Middle Age Iranian Patient: Report of a Rare Case

Basic and Clinical Neuroscience, 2017
Introduction: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can involve multiple systems and cause stroke-like episodes and status epilepticus.
Mostafa Almasi, Mohammad Reza Motamed, Masoud Mehrpour, Bahram Haghi-Ashtiani, Fahimeh Haji Akhondi, Yalda Nilipour, Seyed-Mohammad Fereshtehnejad   +6 more
doaj